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rs121918005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21560662
GeneALPL
is asnp
is mentioned by
dbSNPrs121918005
ebirs121918005
HLIrs121918005
Exacrs121918005
Varsomers121918005
Maprs121918005
PheGenIrs121918005
hapmaprs121918005
1000 genomesrs121918005
hgdprs121918005
ensemblrs121918005
gopubmedrs121918005
geneviewrs121918005
scholarrs121918005
googlers121918005
pharmgkbrs121918005
gwascentralrs121918005
openSNPrs121918005
23andMers121918005
23andMe allrs121918005
SNP Nexus

SNPshotrs121918005
SNPdbers121918005
MSV3drs121918005
GWAS Ctlgrs121918005
Max Magnitude4
rs121918005, also known as c.98C>T or p.A33V, is a SNP in the ALPL gene on chromosome 1.

Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the childhood form of hypophosphatasia.

This SNP is referred to as i5002770 by 23andMe.

OMIM171760
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918005(G,T;G,T)
Alt rs121918005(G,T;G,T)
Reference rs121918005(C;C)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887155C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014655.26,